Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.R132*
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RNF43

NM_017763.6:p.R132*

Associated Papers

Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.

Alnaqbi H et al.

Scientific Reports, 2025

40594066 (PubMed )
Supplement: 41598_2025_5296_MOESM2_ESM.xlsx › Supplementary_Table_1

Lack of dominant-negative activity for tumor-related ZNRF3 missense mutations at endogenous levels.

Li S et al.

Oncogene, 2025

39674817 (PubMed )
Supplement: 41388_2024_3253_MOESM3_ESM.xlsx › colorectal_cancers

Comprehensive genomic profiling of Chinese lung cancer characterizes germline-somatic mutation interactions influencing cancer risk.

Zhou N et al.

Journal of Translational Medicine, 2025

Clinicogenomic landscape of pancreatic adenocarcinoma identifies KRAS mutant dosage as prognostic of overall survival.

Varghese AM et al.

Nature Medicine, 2025

39753968 (PubMed )
Supplement: 41591_2024_3362_MOESM2_ESM.xlsx › SupplementaryTable2_IMPACT_Alts

Germline pathogenic variants in RNF43 in patients with and without serrated polyposis syndrome.

Brinch HH et al.

Familial Cancer, 2024

Hereditary Colorectal Cancer and Polyposis Syndromes Caused by Variants in Uncommon Genes.

Bouras A et al.

Genes, Chromosomes & Cancer, 2024

New Target(s) for RNF43 Regulation: Implications for Therapeutic Strategies.

Nag JK et al.

International Journal of Molecular Sciences, 2024

Molecular profiling of pediatric and young adult colorectal cancer reveals a distinct genomic landscapes and potential therapeutic avenues.

Busico A et al.

Scientific Reports, 2024

38849509 (PubMed )
Supplement: 41598_2024_64149_MOESM1_ESM.pdf

Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family.

Chan JM et al.

Familial Cancer, 2024

Chemotherapy-free treatment targeting fusions and driver mutations in KRAS wild-type pancreatic ductal adenocarcinoma, a case series.

Mehdi M et al.

Therapeutic Advances in Medical Oncology, 2024

TP53 missense mutation reveals gain-of-function properties in small-sized KRAS transformed pancreatic ductal adenocarcinoma.

Zhou Y et al.

Journal of Translational Medicine, 2023

38037073 (PubMed )
Supplement: 12967_2023_4742_MOESM1_ESM.xlsx › Sheet1

RNF43 mutation as a predictor of immunotherapeutic efficacy in colorectal cancer.

Huang K et al.

American Journal of Cancer Research, 2023

Genomic characterization reveals distinct mutation landscapes and therapeutic implications in neuroendocrine carcinomas of the gastrointestinal tract.

Wu H et al.

Cancer Communications (london, England), 2022

36264285 (PubMed )
Supplement: CAC2-42-1367-s002.xlsx › Supplementary_Table_S3

Integrative genomic and transcriptomic analyses illuminate the ontology of HER2-low breast carcinomas.

Berrino E et al.

Genome Medicine, 2022

36038884 (PubMed )
Supplement: 13073_2022_1104_MOESM10_ESM.xlsx › Supplementary_Table_S5

The earliest events in BRAF-mutant colorectal cancer: exome sequencing of sessile serrated lesions with a tiny focus dysplasia or cancer reveals recurring mutations in two distinct progression pathways.

Bleijenberg AG et al.

The Journal of Pathology, 2022

35143042 (PubMed )
Supplement: PATH-257-239-s001.xlsx › all_driver_genes_15-4-2020

Survey of germline variants in cancer-associated genes in young adults with colorectal cancer.

Mikaeel RR et al.

Genes, Chromosomes & Cancer, 2022

RNF43 pathogenic Germline variant in a family with colorectal cancer.

Mikaeel RR et al.

Clinical Genetics, 2022

Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study.

Aoyagi Y et al.

Plos One, 2022

35358259 (PubMed )
Supplement: pone.0266112.s001.xlsx › Patients

Validation of a liquid biopsy assay with molecular and clinical profiling of circulating tumor DNA.

Finkle JD et al.

Npj Precision Oncology, 2021

34215841 (PubMed )
Supplement: 41698_2021_202_MOESM1_ESM.pdf

Analyzing microsatellite instability and gene mutation in circulating cell-free DNA to monitor colorectal cancer progression.

Fu Y et al.

Translational Cancer Research, 2021

The Inherited and Familial Component of Early-Onset Colorectal Cancer.

Daca Alvarez M et al.

Cells, 2021

Exploiting differential Wnt target gene expression to generate a molecular biomarker for colorectal cancer stratification.

Kleeman SO et al.

Gut, 2020

31563876 (PubMed )
Supplement: gutjnl-2019-319126supp003.xlsx › Sup_Table_3

Frequent RNF43 mutation contributes to moderate activation of Wnt signaling in colorectal signet-ring cell carcinoma.

Li Y et al.

Protein & Cell, 2020

Hereditary or Not? Understanding Serrated Polyposis Syndrome.

Stanich PP et al.

Current Treatment Options in Gastroenterology, 2019

Update on genetic predisposition to colorectal cancer and polyposis.

Valle L et al.

Molecular Aspects of Medicine, 2019

Correlation of molecular and morphological features of appendiceal epithelial neoplasms.

Tsai JH et al.

Histopathology, 2019

Intraductal Papillary Mucinous Neoplasms Arise From Multiple Independent Clones, Each With Distinct Mutations.

Fischer CG et al.

Gastroenterology, 2019

NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas.

Belhadj S et al.

Scientific Reports, 2019

31227763 (PubMed )
Supplement: 41598_2019_45281_MOESM1_ESM.pdf

Analysis of error profiles in deep next-generation sequencing data.

Ma X et al.

Genome Biology, 2019

30867008 (PubMed )
Supplement: 13059_2019_1659_MOESM1_ESM.xlsx › S3_b

International society for gastrointestinal hereditary tumours-InSiGHT.

Unknown Author

Familial Cancer, 2019

Evidence suggests that germline RNF43 mutations are a rare cause of serrated polyposis.

Quintana I et al.

Gut, 2018

Update on Hereditary Colorectal Cancer: Improving the Clinical Utility of Multigene Panel Testing.

Lorans M et al.

Clinical Colorectal Cancer, 2018

Lack of evidence for germline RNF43 mutations in patients with serrated polyposis syndrome from a large multinational study.

Buchanan DD et al.

Gut, 2017

A deleterious RNF43 germline mutation in a severely affected serrated polyposis kindred.

Taupin D et al.

Human Genome Variation, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."